Canonical Allele Identifier: CA386698875
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111352097A>T (hg19) chr12:g.110914293A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914293A>T , CM000674.2:g.110914293A>T GRCh38
NC_000012.11:g.111352097A>T , CM000674.1:g.111352097A>T GRCh37
NC_000012.10:g.109836480A>T NCBI36
NG_007554.1:g.11285T>A , LRG_393:g.11285T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.170-3T>A MANE Select ENSP00000228841.8:n.170-3T>A
ENST00000663220.1:c.113-3T>A ENSP00000499568.1:n.113-3T>A
ENST00000228841.12:c.170-3T>A ENSP00000228841.7:n.170-3T>A
ENST00000548438.1:c.125T>A ENSP00000447154.1:p.Leu42Gln
NM_000432.3:c.170-3T>A , LRG_393t1:c.170-3T>A NP_000423.2:n.170-3T>A
NM_000432.4:c.170-3T>A MANE Select NP_000423.2:n.170-3T>A
Search 100 bp 5'
Search 100 bp 3'